Current OI Studies and Publications
Participation in OI research helps advance the scientific understanding of OI so that more and better treatments can be made available to the OI community. Take a look at OI studies and recent OI publications below.
CURRENT OI STUDIES
Supporting research is an important part of the OI Foundation’s mission. Often, the success of clinical studies of a rare disorder like osteogenesis imperfecta (OI) depends on getting enough people to participate in the study so the results are meaningful. People who are interested in participating in a clinical trial are encouraged to review the fact sheet What You Need to Know about Clinical Trials. Additional information about research studies can be found on www.clinicaltrials.gov.
The following studies are currently enrolling participants:
Disclaimer: The OI Foundation is not involved in the design or management of this research, and as such, is neither endorsing nor supporting these studies. The mission of the OIF is to keep the OI community informed of all relevant studies. This information is made available as a service to the OI community.
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7707: Use of clear aligners for the treatment of dental malocclusion in individuals with Osteogenesis Imperfecta (Brittle Bone Disorders Consortium)
The purpose of this study is to determine if it is safe to use Invisalign clear aligners in correcting the misalignment of teeth in people with OI. Clear aligners are transparent plastic trays that are designed to fit over your teeth. With each new tray, teeth are moved a little at a time until they reach the desired position. We plan to have approximately 57 people take part in this study.
For more information, please contact Dianne Nguyen (BBDC Project Manager) at (713)798-6694 or diannen@bcm.edu. For more information about current studies through the Brittle Bones Disorders Consortium (BBDC), visit the BBDC webpage.
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7708: Cardiopulmonary Outcomes in Osteogenesis Imperfecta
The purpose of this study is to understand the cause of the restrictive pulmonary physiology in the OI population. Respiratory insufficiency is the leading cause of death in patients with OI.
In order to participate, you must contact the study coordinator of any of the participating institutions by phone or by e-mail. Please find more information here.
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7709: OI Wellbeing Study (Baylor College of Medicine)
The purpose of this study is to understand the mental health concerns, psychosocial functioning, and priority treatment needs of individuals with OI. This study addresses an under-researched aspect of health critical to the wellbeing of the OI community, namely psychological health. Participants will meet with a researcher over a secure teleconference platform for about 1 hour and complete a series of questionnaires about mental health, physical health, quality of life, social wellbeing, and experience with health care professionals. Participants are compensated $50.
This information may help develop psychological interventions personalized for people with OI. Please share information about this study with any adult with OI that you believe may be interested in participating.
If you are interested in participating and want to see if you are eligible, please complete the following interest survey: https://redcap.research.bcm.edu/redcap/surveys/?s=FJMYJ8WYAE7C38FK
If you have any questions about the study, please email OIWellbeing@bcm.edu or call (713) 798-0117. Please find more information on this study here.
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7710: Pregnancy in Osteogenesis Imperfecta – Part 2: Complications in pregnancy and postpartum
UCLA is conducting a Pregnancy in OI Study to classify and interpret the rates of cesarean delivery(c-section), hemorrhage, and fractures in women with Osteogenesis Imperfecta (OI) during pregnancy. This study is addressing the currently limited data on pregnancy in women with OI. Participants will be asked to connect over the phone with a researcher and complete an online survey about their pregnancy experiences.
If you have any questions or are interested in participating, please call at 310-794-6420 or email at uclaoistudies@mednet.ucla.edu. For more information about current studies through the Brittle Bones Disorders Consortium (BBDC), visit the BBDC webpage.
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Study to Evaluate Efficacy and Safety of Romosozumab (Amgen)
A multicenter phase 3 clinical trial is being conducted to study the efficacy and safety of a clinical trial drug (Romosozumab) compared to bisphosphonates in children and adolescents who have OI. The trial is open to eligible children from age 5 to less than 18 years of age who have a diagnoses of OI Type I through IV. The clinical trial will have sites participating in the following countries: Canada, United States, Australia, China, Japan, Austria, Belgium, Italy, Hungary, Poland, Slovakia, Switzerland, France, Germany, Spain, Turkey and United Kingdom.
For more information please visit the clinical trial registry page at: https://clinicaltrials.gov/study/NCT05972551.
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Invitation to Participate in an Important Survey on Skin Conditions and Osteogenesis Imperfecta (Oregon Health and Science University)
Oregon Health and Science University is conducting a survey to understand the prevalence and impact of skin symptoms in individuals with osteogenesis imperfecta (OI). As we know, OI is a disorder that affects bones and connective tissues, but its implications on skin health are less understood. By sharing your experiences, you can help bridge this knowledge gap. The surveys are brief, and each should take no more than 10 minutes of your time. Your responses will be kept confidential and used solely for research purposes.
Thank you in advance for your valuable contribution to this important study. For questions, please contact study staff at abrahamm@ohsu.edu.
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Cardiopulmonary Study (Hospital for Special Surgery (HSS))
Hospital for Special Surgery (HSS) is sponsoring a pilot study in which researchers are exploring respiratory function and its relation to quality of life, type of OI, presence of scoliosis/chest wall deformity, and other factors such as age or co-existing co-morbidities.
Individuals 15 years of age or older who have a diagnosis of OI are eligible for this single-visit research study, which aims to enroll 50 participants.
If you have any interest in enrolling in the pilot research study, Hospital for Special Surgery in New York City is actively recruiting study participants. If you have any questions about the study or your eligibility, please reach out to Chloe Derocher at (212) 774-2355 or derocherc@hss.edu.
HSS is committed to protecting the privacy of your information and wants you to understand how information you provide will be used and protected. Everyone who sees your information has agreed to protect it. Published study results will not contain information that could identify you. Whenever possible, all information that identifies you will be removed before your information is shared. If you do not agree to participate in this study, it will not affect the health care you receive. You may revoke your permission to use your information in this study by writing to the study contact. If you have any questions about how your information will be used and protected, please contact Chloe Derocher at (212) 774-2355 or derocherc@hss.edu.
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Interested in learning more about participating in Clinical Trials? Take a look at the OI Foundation’s What You Need To Know About Clinical Trials Factsheet.
PUBLICATIONS
Below is a collection of published OI research. We will continue to update this list as more information becomes available.
OI Research – Adults with OI This spreadsheet, created by Riley Johnson B.S. (Research Assistant, Oregon Health and Science University), was created as a resource for people interested in the medical science supporting osteogenesis imperfecta (OI) in adults. The object of this project was to compile a comprehensive list of articles published in the scientific literature about adult OI in humans. Please note that there may be overlooked articles, and new articles may not be included yet.
The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults. Van Welzenis T, Westerheim I, Hart T, Wekre LL, Semler O, Rauch F, Dewavrin L, Dadzie R, Prince S, Raggio C. BMC Public Health. 2024 Nov 28;24(1):3318. doi: 10.1186/s12889-024-20555-0. PMID: 39609757; PMCID: PMC11605868.
Craniofacial Effects of Zoledronic Acid on the Osteogenesis Imperfecta Mouse (−/−) Model of Severe Osteogenesis Imperfecta. Jeannerod, G., Chretien, A., André, G., Mabilleau, G., & Behets, C. (2024). Biomedicines, 12(12), 2692. https://doi.org/10.3390/biomedicines12122692
A new Col1a1 conditional knock-in mouse model to study osteogenesis imperfecta. Dimori M, Toulany M, Sultana LS, Onal M, Thostenson JD, Carroll JL, O’Brien CA, Morello R. J Bone Miner Res. 2024 Nov 20:zjae189. doi: 10.1093/jbmr/zjae189. Epub ahead of print. PMID: 39566076.
Modulation of biomineralization morphology by phosphorylated collagen peptides: insights into osteogenesis imperfecta pathophysiology. Nian L, Li W, Tian X, Wei G, Wu Q, Xiao J. J Mater Chem B. 2024 Oct 29. doi: 10.1039/d4tb00873a. Epub ahead of print. PMID: 39469747.
Developing Stapled Aptamers with a Constrained Conformation for Osteogenesis Imperfect Therapeutics.Amu G, Zhang G, Jing N, Ma Y. J Med Chem. 2024 Oct 29. doi: 10.1021/acs.jmedchem.4c01293. Epub ahead of print. PMID: 39470582.
Assessment of submicron bone tissue composition in plastic-embedded samples using optical photothermal infrared (O-PTIR) spectral imaging and machine learning. Dev I, Mehmood S, Pleshko N, Obeid I, Querido W. Journal of Structural Biology: X, Volume 10, 2024, 100111,ISSN 2590-1524.https://doi.org/10.1016/j.yjsbx.2024.100111.
Craniofacial dysmorphism of osteogenesis imperfecta mouse and effect of cathepsin K knockout: Preliminary craniometry observations. Fosséprez J, Roels T, Manicourt D, Behets C. Morphologie. 2024 Sep;108(362):100785. doi: 10.1016/j.morpho.2024.100785. Epub 2024 May 23. PMID: 38788496.
The Role of Mitochondrial Homeostasis in Mesenchymal Stem Cell Therapy—Potential Implications in the Treatment of Osteogenesis Imperfecta. Guo Q, Zhai Q, Ji P. Pharmaceuticals. 2024; 17(10):1297. https://doi.org/10.3390/ph17101297.
Qualitative investigation of school experiences in children with osteogenesis imperfecta. Morales, J. M., Wiese, A. D., Shepherd, W. S., Colombo, G. M., Guo, S., Qian, J., Rork W. C., Cho H., Kostick-Quenet K. M., Nguyen D., Carter E. M., Fynan M. L., Members of the BBDC, Murali C. N., Robinson M.-E., Schneider S. C., Lee B., Sutton V. R., Storch, E. A. (2024). Qualitative investigation of school experiences in children with osteogenesis imperfecta. Children’s Health Care, 1–28. https://doi.org/10.1080/02739615.2024.2403482.
The structural basis for the collagen processing by human P3H1/CRTAP/PPIB ternary complex. Li W, Peng J, Yao D, Rao B, Xia Y, Wang Q, Li S, Cao M, Shen Y, Ma P, Liao R, Qin A, Zhao J, Cao Y. Nat Commun. 2024 Sep 8;15(1):7844. doi: 10.1038/s41467-024-52321-6. PMID: 39245686; PMCID: PMC11381544.
Schnurri-3 inhibition rescues skeletal fragility and vascular skeletal stem cell niche pathology in the OIM model of osteogenesis imperfecta. Li N, Shi B, Li Z, Han J, Sun J, Huang H, Yallowitz AR, Bok S, Xiao S, Wu Z, Chen Y, Xu Y, Qin T, Huang R, Zheng H, Shen R, Meng L, Greenblatt MB, Xu R. Bone Res. 2024 Aug 26;12(1):46. doi: 10.1038/s41413-024-00349-1. PMID: 39183236; PMCID: PMC11345453.
Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome – osteogenesis imperfecta. Kot A, Chun C, Martin JH, Wachtell D, Hudson D, Weis M, Marks H, Srivastava S, Eyre DR, Duran I, Zieba J, Krakow D. J Bone Miner Res. 2024 Aug 1:zjae124. doi: 10.1093/jbmr/zjae124. Epub ahead of print. PMID: 39088537.
Losartan alters osteoblast differentiation and increases bone mass through inhibition of TGFB signalling in vitro and in an OIM mouse model. Morita M, Arshad F, Quayle LA, George CN, Lefley DV, Kalajzic I, Balsubramanian M, Cebe T, Reilly G, Bishop NJ, Ottewell PD. Bone Rep. 2024 Jul 25;22:101795. doi: 10.1016/j.bonr.2024.101795. PMID: 39185375; PMCID: PMC11344016.
Alendronate treatment rescues the effects of compressive loading of TMJ in osteogenesis imperfecta mice. Chen PJ, Mehta S, Dutra EH, Yadav S. Prog Orthod. 2024 Jul 15;25(1):25. doi: 10.1186/s40510-024-00526-2. PMID: 39004686; PMCID: PMC11247069.
Sclerostin antibody enhances implant osseointegration in bone with Col1a1 mutation. Sung HH, Kwon HH, Stephan C, Reynolds SM, Dai Z, Van der Kraan PM, Caird MS, Blaney Davidson EN, Kozloff KM. Bone. 2024 Sep;186:117167. doi: 10.1016/j.bone.2024.117167. Epub 2024 Jun 13. PMID: 38876270; PMCID: PMC11243590.
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect. Marom R, Song IW, Busse EC, Washington ME, Berrier AS, Rossi VC, Ortinau L, Jeong Y, Jiang MM, Dawson BC, Adeyeye M, Leynes C, Lietman CD, Stroup BM, Batkovskyte D, Jain M, Chen Y, Cela R, Castellon A, Tran AA, Lorenzo I, Meyers DN, Huang S, Turner A, Shenava V, Wallace M, Orwoll E, Park D, Ambrose CG, Nagamani SC, Heaney JD, Lee BH. J Clin Invest. 2024 Jun 11:e170369. doi: 10.1172/JCI170369. Epub ahead of print. PMID: 38885336.
Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta. Cho HE, Shepherd WS, Colombo GM, Wiese AD, Rork WC, Kostick KM, Nguyen D; Members of the BBDC; Murali CN, Robinson ME, Schneider SC, Qian JH, Lee B, Sutton VR, Storch EA. Disabil Rehabil. 2024 Jun 6:1-10. doi: 10.1080/09638288.2024.2358903. Epub ahead of print. PMID: 38841844.
The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults. Orphanet J Rare Dis. Hart T, Westerheim I, van Welzenis T, Semler O, Raggio C, Rauch F, Dadzie R, Prince S, Wekre LL. 2024 Jun 3;19(1):222. doi: 10.1186/s13023-024-03218-6. PMID: 38831282; PMCID: PMC11149192.
Craniofacial dysmorphism of osteogenesis imperfecta mouse and effect of cathepsin K knockout: Preliminary craniometry observations. Fosséprez J, Roels T, Manicourt D, Behets C. Morphologie. 2024 May 23;108(362):100785. doi: 10.1016/j.morpho.2024.100785. Epub ahead of print. PMID: 38788496.
Dickkopf-1 (DKK1) blockade mitigates osteogenesis imperfecta (OI) related bone disease. Ko JY, Wang FS, Lian WS, Yang FS, Chen JW, Huang PH, Liao CY, Kuo SJ. Mol Med. 2024 May 21;30(1):66. doi: 10.1186/s10020-024-00838-3. PMID: 38773377; PMCID: PMC11106911.
Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta. Infante A, Alcorta-Sevillano N, Macías I, Cabodevilla L, Medhat D, Lafaver B, Crawford TK, Phillips CL, Bueno AM, Sagastizabal B, Arroyo M, Campino A, Gerovska D, Araúzo-Bravo M, Gener B, Rodríguez CI. Biomed Pharmacother. 2024 Jun;175:116725. doi: 10.1016/j.biopha.2024.116725. Epub 2024 May 13. PMID: 38744219.
KDELR2 promotes bone marrow mesenchymal stem cell osteogenic differentiation via GSK3β/β-catenin signaling pathway. Wu, X., Zhang, W., Long, L. et al. Cell Tissue Res 396, 269–281 (2024). May 2024. https://doi.org/10.1007/s00441-024-03884-9.
Identification of a family with van der Hoeve’s syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs. Li S, Mei L, He C, Cai X, Wu H, Wu X, Liu Y, Feng Y, Song J. Hum Cell. 2024 May;37(3):817-831. doi: 10.1007/s13577-024-01028-3. Epub 2024 Feb 20. PMID: 38379122.
Combining anabolic loading and raloxifene improves bone quantity and some quality measures in a mouse model of osteogenesis imperfecta. Creecy A, Segvich D, Metzger C, Kohler R, Wallace JM. Bone. 2024 Apr 17:117106. doi: 10.1016/j.bone.2024.117106. Epub ahead of print. PMID: 38641232.
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers. Westerheim I, Hart T, van Welzenis T, Wekre LL, Semler O, Raggio C, Bober MB, Rapoport M, Prince S, Rauch F. Orphanet J Rare Dis. 2024 Mar 21;19(1):128. doi: 10.1186/s13023-024-03126-9. PMID: 38515144; PMCID: PMC10956293.
In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells. Claeys L, Zhytnik L, Ventura L, Wisse LE, Eekhoff EMW, Pals G, Bravenboer N, Heine VM, Micha D. Int J Mol Sci. 2024 Mar 18;25(6):3417. doi: 10.3390/ijms25063417. PMID: 38542391.
Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta. Liu W, Nicol L, Orwoll E. Calcif Tissue Int. 2024 Mar 12. doi: 10.1007/s00223-024-01188-2. Epub ahead of print. PMID: 38472351.
Advantages of Using 3D Spheroid Culture Systems in Toxicological and Pharmacological Assessment for Osteogenesis Research. Yun C, Kim SH, Kim KM, Yang MH, Byun MR, Kim JH, Kwon D, Pham HTM, Kim HS, Kim JH, Jung YS. Int J Mol Sci. 2024 Feb 21;25(5):2512. doi: 10.3390/ijms25052512. PMID: 38473760; PMCID: PMC10931738.
Unique quinoline orientations shape the modified aptamer to sclerostin for enhanced binding affinity and bone anabolic potential. Gubu A, Ma Y, Yu S, Zhang H, Chen Z, Ni S, Abdullah R, Xiao H, Zhang Y, Dai H, Luo H, Yu Y, Wang L, Jiang H, Zhang N, Tian Y, Li H, Lu A, Zhang B, Zhang G. Mol Ther Nucleic Acids. 2024 Feb 13;35(1):102146. doi: 10.1016/j.omtn.2024.102146. PMID: 38444701; PMCID: PMC10914587.
Lethality prediction of single-site osteogenesis imperfecta mutations on type I collagen with graph neural networks. Chen YL, Hui WH, Chang SW. Biophysical Journal. 2023 Feb 8; 123(3) suppl. 1. https://doi.org/10.1016/j.bpj.2023.11.2591
Osteogenesis Imperfecta Is More Than a Pediatric Disorder-There Is a Need for Adult Care Evidence to Guide Clinicians. Folkestad L, Hald JD, Tosi L, Raggio C, Semler O, Langdahl B, Ralston SH. J Clin Endocrinol Metab. 2024 Jan 18;109(2):e866-e867. doi: 10.1210/clinem/dgad423. PMID: 37453088.
Collagen mutation and age contribute to differential craniofacial phenotypes in mouse models of osteogenesis imperfecta. Sung HH, Spresser WJ, Hoffmann JP, Dai Z, Van der Kraan PM, Caird MS, Davidson EB, Kozloff KM. JBMR Plus. 2024 Jan 4;8(1):ziad004. doi: 10.1093/jbmrpl/ziad004. PMID: 38690127; PMCID: PMC11059998.
RNA-based bone histomorphometry: method and its application to explaining postpubertal bone gain in a G610C mouse model of osteogenesis imperfecta. Makareeva E, Sousa M, Kent T, de Castro LF, Collins MT, Leikin S. J Bone Miner Res. 2024 Jan 4:zjad004. doi: 10.1093/jbmr/zjad004. Epub ahead of print. PMID: 38477760.
Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function – A multi-omics study.
Jovanovic M, Mitra A, Besio R, Contento BM, Wong KW, Derkyi A, To M, Forlino A, Dale RK, Marini JC. Matrix Biol. 2023 Jun 20:S0945-053X(23)00075-6. doi: 10.1016/j.matbio.2023.06.004. Epub ahead of print. PMID: 37348683.
CaMKII inhibition due to TRIC-B loss-of-function dysregulates SMAD signaling in osteogenesis imperfecta. Besio R, Contento BM, Garibaldi N, Filibian M, Sonntag S, Shmerling D, Tonelli F, Biggiogera M, Brini M, Salmaso A, Jovanovic M, Marini JC, Rossi A, Forlino A. Matrix Biol. 2023 Jun;120:43-59. doi: 10.1016/j.matbio.2023.05.002. Epub 2023 May 11. PMID: 37178987.
Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure. Daponte V, Tonelli F, Masiero C, Syx D, Exbrayat-Héritier C, Biggiogera M, Willaert A, Rossi A, Coucke PJ, Ruggiero F, Forlino A. Matrix Biol. 2023 Jun 17:S0945-053X(23)00073-2. doi: 10.1016/j.matbio.2023.06.003. Epub ahead of print. PMID: 37336269.
Correlation of lipocalin 2 and glycolipid metabolism and body composition in a large cohort of children with osteogenesis imperfecta. Zheng WB, Hu J, Sun L, Liu JY, Zhang Q, Wang O, Jiang Y, Xia WB, Xing XP, Li M. J Endocrinol Invest. 2023 Jun 16. doi: 10.1007/s40618-023-02121-4. Epub ahead of print. PMID: 37326909.
The International Standard Set of Outcome Measures for the Assessment of Hearing in People with Osteogenesis Imperfecta
Goderie, Thadé ; Hendricks, Sebastian ; Cocchi, Chiara; Maroger, I. Diane; Mekking, Dagmar; Mosnier, Isabelle; Musacchio, Angela; Vernick, David; Smits, Cas. Otology & Neurotology ():10.1097/MAO.0000000000003921, June 15, 2023. DOI: 10.1097/MAO.0000000000003921
TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta. Etich J, Semler O, Stevenson NL, Stephan A, Besio R, Garibaldi N, Reintjes N, Dafinger C, Liebau MC, Baumann U, Mörgelin M, Forlino A, Stephens DJ, Netzer C, Zaucke F, Rehberg M. EMBO Mol Med. 2023 Jun 9:e17528. doi:10.15252/emmm.202317528. Epub ahead of print. PMID: 37292039.
RNA Sequencing of Urine-Derived Cells for the Characterisation and Diagnosis of Osteogenesis Imperfecta. Ludwig K, Wu Z, Bardai G, Mason P, Ward LM, Moffatt P, Rauch F. J Bone Miner Res. 2023 Jun 9. doi: 10.1002/jbmr.4865. Epub ahead of print. PMID: 37293821.
Beneficial Effects of Zoledronic Acid on Tendons of the Osteogenesis Imperfecta Mouse (Oim).Chretien A, Mabilleau G, Lebacq J, Docquier P-L, Behets C. Pharmaceuticals. 2023; 16(6):832. https://doi.org/10.3390/ph16060832
Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta. Lim PJ, Marcionelli G, Srikanthan P, Ndarugendamwo T, Pinner J, Rohrbach M, Giunta C. Front Endocrinol (Lausanne). 2023 May 25;14:1195704. doi: 10.3389/fendo.2023.1195704. PMID: 37305034; PMCID: PMC10248412.
Multiscale Effects of Collagen Damage in Cortical Bone and Dentin. Wu, Q., Touraivane, S., Reiss, T., Vallet, M., Roubier, N., Vennat E., Acevedo C. https://doi.org/10.1007/s11837-023-05852-0
Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta. Gaume, M., El Yahiaouni, S., De Tienda, M., Baujat V., Cormier-Daire,V., Dumaine, V. Pannier, S., Finidori G., Pejin Z. International Orthopaedics (SICOT) (2023). https://doi.org/10.1007/s00264-023-05818-6.
Whole-Body Metabolism and the Musculoskeletal Impacts of Targeting Activin A and Myostatin in Severe Osteogenesis Imperfecta. Omosule, C.L., Joseph, D., Weiler, B., Gremminger, V.L., Silvey, S., Lafaver, B.N., Jeong, Y., Kleiner, S. and Phillips, C.L. (2023). JBMR Plus. https://doi.org/10.1002/jbm4.10753
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII. Udupa P, Shrikondawar AN, Nayak SS, Shah H, Ranjan A, Girisha KM, Bhavani GS, Ghosh DK. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166741. doi: 10.1016/j.bbadis.2023.166741. Epub 2023 May 3. PMID: 37146916.
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities. Gochuico BR, Hossain M, Talvacchio SK, et al. Journal of Medical Genetics Published Online First: 16 May 2023. doi: 10.1136/jmg-2022-109009
The Fate of the Bent Rod in Children With Osteogenesis Imperfecta
Fralinger, D. J., Kraft, D. B., Rogers, K. J., Thacker, M. M., Kruse, R. W., & Franzone, J. M. (2023). Journal of pediatric orthopedics, 10.1097/BPO.0000000000002409. Advance online publication. https://doi.org/10.1097/BPO.0000000000002409
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta. Nijhuis W, Franken A, Ayers K, Damas C, Folkestad L, Forlino A, Fraschini P, Hill C, Janus G, Kruse R, Lande Wekre L, Michiels L, Montpetit K, Panzeri L, Porquet-Bordes V, Rauch F, Sakkers R, Salles JP, Semler O, Sun J, To M, Tosi L, Yao Y, Yeung EHK, Zhytnik L, Zillikens MC, Verhoef M. Orphanet J Rare Dis. 2021 Mar 20;16(1):140. doi: 10.1186/s13023-021-01682-y. PMID: 33743784; PMCID: PMC7980586.
Standardized growth charts for children with osteogenesis imperfecta. Robinson, ME., Rauch, D., Glorieux, F.H. et al. Pediatr Res (2023). https://doi.org/10.1038/s41390-023-02550-0
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review. Rapoport M, Bober MB, Raggio C, Wekre LL, Rauch F, Westerheim I, Hart T, Welzenis Tv, Mistry A, Clancy J, Booth L, Prince S and Semler O. Orphanet J Rare Dis 18, 34 (2023). 2023 Feb 22. doi: 10.1186/s13023-023-02627-3
Radiomorphometric indices and fractal dimension of the mandible in individuals with osteogenesis imperfecta: a matched cross-sectional study. Prado HV, Debossan SAT, Loayza KS, Abreu LG, Brasileiro CB, Borges-Oliveira AC. Oral Surg Oral Med Oral Pathol Oral Radiol. 2023 Jul;136(1):102-111. doi: 10.1016/j.oooo.2023.02.002. Epub 2023 Feb 12. PMID: 36966060.
Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.Winnie Liu, Brendan Lee, Sandesh C S Nagamani, Lindsey Nicol, Frank Rauch, Eric T Rush, V Reid Sutton, Eric Orwoll, The Journal of Clinical Endocrinology & Metabolism, 2023;, dgad035, https://doi.org/10.1210/clinem/dgad035
Recommendations for Lung Function Guidance in Osteogenesis Imperfecta: Based on an Internationally Performed Comprehensive International Consortium for Health Outcomes Measurement Procedure. Chaney, H., Mekking, D., De Bakker, D., Beeri, E., Eekhoff, E. M. W., Franken, A., Kamp, O., Micha, D., Barreiros, C., Tomlow, B., van den Aardweg, J. G., LoMauro, A., & Folkestad, L. (2023). Chest, 163(5), 1201–1213. https://doi.org/10.1016/j.chest.2022.12.047
Morphological variability in the inner ear of mice with osteogenesis imperfecta. Huston LA, Husain TS, Moore JC, Organ JM, Menegaz RA, Handler EK, Gonzales LA. Anat Rec (Hoboken). 2023 Jul 29. doi: 10.1002/ar.25298. Epub ahead of print. PMID: 37515586.
A multicenter study to evaluate pain characteristics in osteogenesis imperfecta. Rodriguez Celin M, Kruger KM, Caudill A, Murali CN, Nagamani SCS, Members Of The Brittle Bone Disorders Consortium Bbdc, Smith PA, Harris GF. Am J Med Genet A. 2022 Oct 22. doi: 10.1002/ajmg.a.63009. Epub ahead of print. PMID: 36271817.
Targeting TGF-β for treatment of osteogenesis imperfecta. Song IW, Nagamani SC, Nguyen D, Grafe I, Sutton VR, Gannon FH, Munivez E, Jiang MM, Tran A, Wallace M, Esposito P, Musaad S, Strudthoff E, McGuire S, Thornton M, Shenava V, Rosenfeld S, Huang S, Shypailo R, Orwoll E, Lee B. J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network, Westerfield M, De Matteis MA, Lee B. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26.
Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta Lim J, Lietman C, Grol MW, Castellon A, Dawson B. Adeyeye M, Rai J, Weis M, Keene DR, Schweitzer R, Park D, Eyre DR, Krakow D, Lee BH. Proceedings of the National Academy of Sciences, 2021 Jun 14; 118 (25) e2100690118. doi: 10.1073/pnas.2100690118.
Missing and unerupted teeth in osteogenesis imperfecta. Taqi D, Moussa H, Schwinghamer T, Vieira AR, Dagdeviren D, Retrouvey JM, Rauch F, Tamimi F; Members of the BBDC. Bone. 2021 Sep;150:116011. doi: 10.1016/j.bone.2021.116011. Epub 2021 May 18.
Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta. Nicol LE, Coghlan RF, Cuthbertson D, Nagamani SCS, Lee B, Olney RC, Horton W; Members of the Brittle Bone Disease Consortium, Orwoll E. Bone. 2021 Aug;149:115990. doi: 10.1016/j.bone.2021.115990. Epub 2021 Apr 28.
Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Rao R, Cuthbertson D, Nagamani SCS, Sutton VR, Lee BH, Krischer J, Krakow D. Am J Obstet Gynecol MFM. 2021 Jul;3(4):100362. doi: 10.1016/j.ajogmf.2021.100362. Epub 2021 Mar 26.
Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study. Taqi D, Moussa H, Schwinghamer T, Ducret M, Dagdeviren D, Retrouvey JM, Rauch F, Tamimi F; Members of the BBDC. Bone. 2021 Jun;147:115917. doi: 10.1016/j.bone.2021.115917. Epub 2021 Mar 16.
Health-related quality of life in adults with osteogenesis imperfecta. Murali CN, Slater B, Musaad S, Cuthbertson D, Nguyen D, Turner A, Azamian M, Tosi L, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SCS. Clin Genet. 2021 Jun;99(6):772-779. doi: 10.1111/cge.13939. Epub 2021 Feb 22.
A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta. Rodriguez Celin M, Kruger KM, Caudill A, Nagamani SCS; Brittle Bone Disorders Consortium (BBDC); Linked Clinical Research Centers (LCRC), Harris GF, Smith PA. JB JS Open Access. 2020 Sep 11;5(3):e20.00031. doi: 10.2106/JBJS.OA.20.00031. eCollection 2020 Jul-Sep.
Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. Rauch D, Robinson ME, Seiltgens C, Sutton VR, Lee B, Glorieux F, Rauch F. Bone. 2020 Nov;140:115547. doi: 10.1016/j.bone.2020.115547. Epub 2020 Jul 27.
Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study. Najirad M, Madathil SA, Rauch F, Sutton VR, Lee B, Retrouvey JM; Members of the Brittle Bone Diseases Consortium, Esfandiari S. J Am Dent Assoc. 2020 Jul;151(7):480-490.e2. doi: 10.1016/j.adaj.2020.03.040.
Osteogenesis imperfecta: advancements in genetics and treatment. Rossi V, Lee B, Marom R. Curr Opin Pediatr. 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813.
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH; Members of the BBD Consortium, Nagamani SCS, Raggio C. Am J Med Genet A. 2020 Apr;182(4):697-704. doi: 10.1002/ajmg.a.61464. Epub 2019 Dec 26.
Identification of Functionally Distinct Mx1+αSMA+ Periosteal Skeletal Stem Cells. Ortinau LC, Wang H, Lei K, Deveza L, Jeong Y, Hara Y, Grafe I, Rosenfeld SB, Lee D, Lee B, Scadden DT, Park D. Cell Stem Cell. 2019 Dec 5;25(6):784-796.e5. doi: 10.1016/j.stem.2019.11.003.
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SCS. Genet Med. 2020 Mar;22(3):581-589. doi: 10.1038/s41436-019-0688-6. Epub 2019 Nov 27.
Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. Swezey T, Reeve BB, Hart TS, Floor MK, Dollar CM, Gillies AP, Tosi LL. Osteoporos Int. 2019 Feb;30(2):507-511. doi: 10.1007/s00198-018-4690-7. Epub 2018 Sep 6. PMID:30191258
Mobility in Osteogenesis Imperfecta: A Multicenter North American Study. Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF. Genet Med. 2019 Mar 28. doi: 10.1038/s41436-019-0491-4. PMID: 30918359
Caries Prevalence and Experience in Individuals with Osteogenesis Imperfecta. Ma MS, Najirad M, Taqi D, Retrouvey JM, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Sutton VR, Rauch F, Esfandiari S. Spec Care Dentist. 2019 Mar;39(2):214-219. Epub 2019 Feb 13. https://doi.org/10.1101/418806. PMID: 30758072
Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement. Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium, Hart TS, Cuthbertson DD, Sutton VR, Krischer JP. Orphanet Journal of Rare Diseases. 2019 Jan 29;14:23. https://doi.org/10.1186/s13023-019- 1004-x. PMID: 30696467
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC, Raggio CL. JBMR Plus. 2019 Jan 7;3(5):e10118. doi: 10.1002/jbm4.10118. eCollection 2019 May.
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR; Members of the BBD Consortium. Eur J Med Genet. 2019 Dec;62(12):103606. doi: 10.1016/j.ejmg.2018.12.011. Epub 2018 Dec 26.
Cone‐Beam Computed Tomography of Osteogenesis Imperfecta Types III and IV: Three‐Dimensional Evaluation of Craniofacial Features and Upper Airways. Reznikov N, Dagdeviren D, Tamimi F, Glorieux F, Rauch F, Retrouvey JM. JBMR Plus, Epub November 16, 2018; doi: 10.1002/jbm4.10124
Oral Health-Related Quality of Life in Children and Adolescents with Osteogenesis Imperfecta: cross- sectional study. Najirad M, Ma MS, Rauch F, Sutton VR, Lee B, Retrouvey JM; Members of the BBD, Esfandiari S. Orphanet J Rare Dis. 2018 Oct 25;13(1):187. doi: https://doi.org/10.1101/424812. PMID: 30359278
Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MA, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B, “Members of the BBD Consortium”, Nagamani SC, Raggio CL. JBMR Plus, Epub October 23, 2018; doi: 10.1002/jbm4.10118
Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5. Dagdeviren D, Tamimi F, Lee B, Sutton R, Rauch F, Retrouvey JM. Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5. Dagdeviren D, Tamimi F, Lee B, Sutton V, Rauch F, Retrouvey JM. Am J Med Genet A. 2018 Oct 5. doi: 10.1002/ajmg.a.40383. PMID: 30289614
Heterozygous WNT1 variant causing a variable bone phenotype. Alhamdi S, Lee YC, Chowdhury S, Byers PH, Gottschalk M, Taft RJ, Joeng KS, Lee BH, Bird LM. Am J Med Genet A. 2018 Nov;176(11):2419-2424. doi: 10.1002/ajmg.a.40347. Epub 2018 Sep 24.
A Multicenter Study to Evaluate Pulmonary Function in Osteogenesis Imperfecta. Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B; Members of the Brittle Bone Disorders Consortium, Rush ET, Nagamani SCS. Clin Genet. 2018 Dec;94(6):502-511. doi: 10.1111/cge.13440. Epub 2018 Sep 24. PMID: 30152014
Osteogenesis imperfecta: potential therapeutic approaches. Rousseau M, Retrouvey JM; Members of the Brittle Bone Disease Consortium. PeerJ. 2018 Aug 17;6:e5464. doi: 10.7717/peerj.5464. eCollection 2018. PMID: 30128210
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR; , Members of the Brittle Bone Disorders Consortium*,, Nagamani SCS. Genet Med. 2018 Jul 4. doi: 10.1038/s41436-018-0045-1. PMID: 29970925
Orthodontic chart documentation. Abdelkarim A, Jerrold L. Am J Orthod Dentofacial Orthop. 2017 Jul;152(1):126-130. doi: 10.1016/j.ajodo.2017.03.018.
Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. Lietman CD, Lim J, Grafe I, Chen Y, Ding H, Bi X, Ambrose CG, Fratzl-Zelman N, Roschger P, Klaushofer K, Wagermaier W, Schmidt I, Fratzl P, Rai J, Weis M, Eyre D, Keene DR, Krakow D, Lee BH. J Bone Miner Res. 2017 Jun;32(6):1354-1367. doi: 10.1002/jbmr.3108. Epub 2017 Mar 20.
Genetic causes and mechanisms of Osteogenesis Imperfecta. Lim J, Grafe I, Alexander S, Lee B. Bone. 2017 Sep;102:40-49. doi: 10.1016/j.bone.2017.02.004. Epub 2017 Feb 15.
Correlations Between Bone Mechanical Properties and Bone Composition Parameters in Mouse Models of Dominant and Recessive Osteogenesis Imperfecta and the Response to Anti-TGF-β Treatment. Bi X, Grafe I, Ding H, Flores R, Munivez E, Jiang MM, Dawson B, Lee B, Ambrose CG. J Bone Miner Res. 2017 Feb;32(2):347-359. doi: 10.1002/jbmr.2997. Epub 2016 Oct 20.
Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta. Grafe I, Alexander S, Yang T, Lietman C, Homan EP, Munivez E, Chen Y, Jiang MM, Bertin T, Dawson B, Asuncion F, Ke HZ, Ominsky MS, Lee B. J Bone Miner Res. 2016 May;31(5):1030-40. doi: 10.1002/jbmr.2776. Epub 2016 Feb 12.
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC. Genet Med. 2016 Jun;18(6):570-6. doi: 10.1038/gim.2015.131. Epub 2015 Oct 1. PMID: 26426884
A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation. Lietman CD, Marom R, Munivez E, Bertin TK, Jiang MM, Chen Y, Dawson B, Weis MA, Eyre D, Lee B. J Bone Miner Res. 2015 Mar;30(3):489-98. doi: 10.1002/jbmr.2363.
What You Need to Know about Clinical Trials
A clinical study is research that involves human volunteers and seeks to answer questions that will add to our
knowledge about a medical condition or how to treat it. Learn more about types of studies, how they are organized, and what to consider before participating.
The IMPACT Survey
In 2021, the Osteogenesis Imperfecta Foundation (OIF), the Osteogenesis Imperfecta Federation Europe (OIFE), and Mereo BioPharma collaborated closely to launch the IMPACT Survey. The goal of this project was to capture and quantify the real impact OI has on the lives of people with OI, their families, and caregivers. We were thrilled that more than 2,200 OI community members from 66 countries participated in this survey!
